The gene-editing tool takes on “nonsense mutations” that are involved in roughly 30 million genetic diseases.
Category: genetics
Miniature microscope captures real-time voltage signals in awake animals
Researchers have built a tiny, lightweight microscope that captures neuron activity with unprecedented speed that can be used in freely moving animals. The new tool could give scientists a more complete view of how brain cells process information during natural behavior.
The microscope is designed to image genetically encoded voltage indicators —fluorescent dyes that rapidly change brightness when a neuron fires—through a small window in the skull while the animal is awake.
“Unlike most miniature microscopes that track slower calcium signals, ours captures electrical spikes at hundreds of frames per second,” said Emily Gibson from the University of Colorado Anschutz Medical Campus. “This makes it possible to capture the moment a neuron fires as well as the quieter signals that build up inside neurons before firing.”
Loss of brain protein eases Alzheimer’s symptoms and brain damage in mice
New research published in the journal eNeuro examined whether eliminating a protein that is elevated in the brains of those with Alzheimer’s could prevent or reduce damage and behavioral symptoms in a mouse model of Alzheimer’s disease.
“Previous work from our research team and others found evidence that a specific protein named Centaurin-α1 is involved in the progression of Alzheimer’s damage within neurons,” explained lead author of the study, Dr. Erzsebet Szatmari. “To confirm the role of this protein and see if it might be a good therapeutic target, we tested whether genetically removing it would prevent or slow disease progression in a mouse model of the disease.”
The scientists used a well-characterized model of Alzheimer’s disease in mice. The disease model (called J20) contains two genetic mutations associated with rare familial variants of Alzheimer’s disease. These animals develop changes in brain tissue and behavioral deficits characteristic of many symptoms seen in human Alzheimer’s disease, including neuroinflammation, accumulation of neuronal plaques, synapse loss, and impairments in spatial memory and learning.
AI model to detect skin cancer
Key findings from the study include:
Researchers have developed a new approach for identifying individuals with skin cancer that combines genetic ancestry, lifestyle and social determinants of health using a machine learning model. Their model, more accurate than existing approaches, also helped the researchers better characterize disparities in skin cancer risk and outcomes.
Skin cancer is among the most common cancers in the United States, with more than 9,500 new cases diagnosed every day and approximately two deaths from skin cancer occurring every hour. One important component of reducing the burden of skin cancer is risk prediction, which utilizes technology and patient information to help doctors decide which individuals should be prioritized for cancer screening.
Traditional risk prediction tools, such as risk calculators based on family history, skin type and sun exposure, have historically performed best in people of European ancestry because they are more represented in the data used to develop these models. This leaves significant gaps in early detection for other populations, particularly those with darker skin, who are less likely to be of European ancestry. As a result, skin cancer in people of non-European ancestry is frequently diagnosed at later stages when it is more difficult to treat. As a consequence of later stage detection, people of non-European ancestry also tend to have worse overall outcomes from skin cancer.
Autistic children born preterm often show more complex needs—but share similar genetic background
A new study shows that children born preterm who are later diagnosed with autism often present with more extensive support needs and a higher number of co-occurring conditions than autistic children born at full term. Surprisingly, however, the researchers found no differences in genetic variants across the genome, nor in specific genes already linked to autism, between the groups—a result that contradicted their initial hypothesis.
The study was conducted at KIND (Center of Neurodevelopmental Disorders at Karolinska Institutet) and published in October 2025 in the journal Genome Medicine.
“We did not observe any genetic differences between preterm and full-term autistic children, which was unexpected. We initially thought that preterm children might show fewer of the genetic factors associated with autism, as their early birth can be viewed as an environmental factor,” says Yali Zhang, doctoral student at Tammimies research group at KIND and first author of the study.
Comprehensive map reveals neuronal dendrites in the mouse brain in greater detail
Understanding the shape or morphology of neurons and mapping the tree-like branches via which they receive signals from other cells (i.e., dendrites) is a long-standing objective of neuroscience research. Ultimately, this can help to shed light on how information flows through the brain and pin-point differences associated with specific neurological or psychiatric disorders.
The X. William Yang Lab at the Jane and Terry Semel Institute and the Department of Psychiatry and Biobehavioral Sciences at University of California, Los Angeles (UCLA) have devised new sophisticated methods to map neuronal dendrites in the mouse brain, which combine large-scale data collection with genetic labeling techniques and computational tools.
Their research approach, outlined in a paper published in Nature Neuroscience, allowed them to create a comprehensive map of two genetic types of neurons in the mouse brain, known as D1-and D2-type striatal medium spiny neurons (MSNs).
Genetic testing trifecta predicts risk of sudden cardiac death and arrhythmia
The study involving 1,119 participants will be published in Cell Reports Medicine.
Currently, genetic testing is divided into three distinct approaches:
In a new study, scientists have developed a more precise genetic risk score to determine whether a person is likely to develop arrhythmia, an irregular heartbeat that can lead to serious conditions such as atrial fibrillation (AFib) or sudden cardiac death.
Their approach not only improves the accuracy of heart disease risk prediction but also offers a comprehensive framework for genetic testing that, according to the scientists, could be applied to anything, including other complex, genetically influenced diseases like cancer, Parkinson’s Disease and autism.
“It’s a very cool approach in which we are combining rare gene variants with common gene variants and then adding in non-coding genome information. To our knowledge, no one has used this comprehensive approach before, so it’s really a roadmap of how to do that,” said co-corresponding author.
Cell nucleus shape may influence cancer treatment success
Cancer cells with a cell nucleus that is easily deformed are more sensitive to drugs that damage DNA. These are the findings of a new study by researchers at Linköping University in Sweden. The results may also explain why combining certain cancer drugs can produce the opposite of the intended effect. The study has been published in the journal Nature Communications.
A few years ago, a new type of drug was introduced that exploits deficiencies in cancer cells’ ability to repair damage to their DNA. These drugs, called PARP1 inhibitors, are used against cancers that have mutations in genes involved in DNA repair, such as the breast cancer gene 1 (BRCA1).
This gene has such a central role in the cell’s ability to repair serious DNA damage that mutations in it greatly increase the risk of developing cancer, often at a young age. The risk is so high that some women with a mutated BRCA1 gene choose to have their breasts and ovaries surgically removed to prevent cancer.
Sugars, ‘gum,’ stardust found in NASA’s asteroid Bennu samples
The asteroid Bennu continues to provide new clues to scientists’ biggest questions about the formation of the early solar system and the origins of life. As part of the ongoing study of pristine samples delivered to Earth by NASA’s OSIRIS-REx (Origins, Spectral Interpretation, Resource Identification, and Security-Regolith Explorer) spacecraft, three new papers published Tuesday by the journals Nature Geosciences and Nature Astronomy present remarkable discoveries: sugars essential for biology, a gum-like substance not seen before in astromaterials, and an unexpectedly high abundance of dust produced by supernova explosions.
Scientists led by Yoshihiro Furukawa of Tohoku University in Japan found sugars essential for biology on Earth in the Bennu samples, detailing their findings in the journal Nature Geoscience. The five-carbon sugar ribose and, for the first time in an extraterrestrial sample, six-carbon glucose were found. Although these sugars are not evidence of life, their detection, along with previous detections of amino acids, nucleobases, and carboxylic acids in Bennu samples, show building blocks of biological molecules were widespread throughout the solar system.
For life on Earth, the sugars deoxyribose and ribose are key building blocks of DNA and RNA, respectively. DNA is the primary carrier of genetic information in cells. RNA performs numerous functions, and life as we know it could not exist without it. Ribose in RNA is used in the molecule’s sugar-phosphate “backbone” that connects a string of information-carrying nucleobases.
Impaired touch perception in Alzheimer’s associated with Tau pathology and lower cognitive scores
Alzheimer’s disease (AD) is a neurodegenerative condition characterized by the progressive deterioration of brain cells, which prompts memory loss, a decline in mental functions and behavioral changes. Estimates suggest that this disease affects approximately 1 in 14 people who are more than 65 years old and over 35% of people who are over 85 years old.
Due to its prevalence and debilitating nature, AD has become the focus of numerous neuroscience and medical studies. Most of these studies examined brain regions and neurogenetic processes that appear to be different in people diagnosed with AD.
Recently, some neuroscientists gathered evidence suggesting that parts of the brain that support somatosensory processing (i.e., the interpretation of tactile stimuli, pressure and the body’s position in space), are also affected in individuals with AD. Yet the extent to which these tactile sensation-related deficits play a role in the cognitive decline typical of AD has not yet been determined.